Abstract:
PURPOSE:To identify the genetic basis of a recessive inheritance form of retinal dystrophy (RD) in a Lebanese family. MATERIALS AND METHODS:Clinical data were recorded for five patients of the 14 family members. Genetic linkage was carried out using Affymetrix 250 K Nspl SNP array followed by sequencing. RESULTS:The patients showed variable phenotypes ranging from Leber Congenital Amaurosis (LCA) to progressive forms of Retinitis Pigmentosa (RP). A 46.1 Mb chromosomal region at chromosome 1q23.3-32.2 was identified by homozygosity mapping. This region contained the Crumbs homologue-1, CRB1, a gene responsible for recessive retinal dystrophies. CRB1 is required for photoreceptor morphogenesis, and it has been associated with RP and LCA. Sequencing of CRB1 revealed two mutations: a novel deletion in exon 6 (c.1772_1775delGCAT; p.C591Sfs*28) and a missense mutation in exon 7 (c.2234C > T; p.T745M). CONCLUSION:We report a novel CRB1 mutation in inherited RD in a Lebanese family, and confirm the considerable phenotype heterogeneity that may exist between individuals sharing the same mutations.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Jalkh N,Guissart C,Chouery E,Yammine T,El Ali N,Farah HA,Mégarbané Adoi
10.3109/13816810.2013.763995subject
Has Abstractpub_date
2014-03-01 00:00:00pages
57-62issue
1eissn
1381-6810issn
1744-5094journal_volume
35pub_type
杂志文章abstract::Several forms of autosomal dominant retinitis pigmentosa (adRP) are caused by mutations in genes encoding proteins that are ubiquitously expressed and involved in the pre-mRNA spliceosome such as PRPF31. This paper provides an overview of the molecular genetics, pathophysiology, and mechanism for incomplete penetrance...
journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.544365
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
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journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
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pub_type: 信件
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pub_type: 杂志文章
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更新日期:2018-10-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
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更新日期:1998-03-01 00:00:00
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pub_type: 杂志文章
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更新日期:2004-03-01 00:00:00
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pub_type: 杂志文章
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pub_type: 杂志文章
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